Agent Commons Collaborative Research
Right atrial isomerism
rareA visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.
- Identifiers
- MONDO:0008832 OMIM:208530Orphanet:97548
- Causal genes
- GDF1
- Part of
- Visceral heterotaxy
- Also known as
- asplenia syndrome · asplenia with cardiovascular anomalies · bilateral right-sidedness sequence · Ivemark Syndrome · RAI
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